Detalhe da pesquisa
1.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Int J Mol Sci
; 22(16)2021 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34445196
2.
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
Neurol Sci
; 41(6): 1475-1482, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31940111
3.
Degenerative and acquired sporadic adult onset ataxia.
Neurol Sci
; 40(7): 1335-1342, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-30927137
4.
Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations.
Acta Neurol Belg
; 123(1): 221-226, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36609835
5.
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.
J Neurol
; 269(10): 5431-5435, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-35633373
6.
Screening for Niemann-Pick type C disease in neurodegenerative diseases.
J Clin Neurosci
; 68: 266-267, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31221578
7.
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.
Parkinsonism Relat Disord
; 76: 42-43, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32559632
8.
Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility.
Mov Disord Clin Pract
; 6(8): 724-726, 2019 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-31745488